Incidental Mutation 'R2133:Optc'
ID 233475
Institutional Source Beutler Lab
Gene Symbol Optc
Ensembl Gene ENSMUSG00000010311
Gene Name opticin
Synonyms
MMRRC Submission 040136-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2133 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 133824937-133835737 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 133831534 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124051] [ENSMUST00000149380] [ENSMUST00000153617]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000124051
SMART Domains Protein: ENSMUSP00000120568
Gene: ENSMUSG00000010311

DomainStartEndE-ValueType
low complexity region 42 70 N/A INTRINSIC
low complexity region 78 88 N/A INTRINSIC
low complexity region 134 145 N/A INTRINSIC
LRRNT 176 206 2.22e-2 SMART
LRR 200 224 3.55e1 SMART
LRR_TYP 225 248 6.78e-3 SMART
LRR 249 271 4.21e1 SMART
LRR 295 318 1.76e1 SMART
LRR 319 339 3.36e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124245
Predicted Effect probably null
Transcript: ENSMUST00000126123
SMART Domains Protein: ENSMUSP00000117086
Gene: ENSMUSG00000010311

DomainStartEndE-ValueType
low complexity region 32 60 N/A INTRINSIC
low complexity region 68 78 N/A INTRINSIC
low complexity region 124 135 N/A INTRINSIC
LRRNT 166 196 2.22e-2 SMART
LRR 190 214 3.55e1 SMART
LRR_TYP 215 238 6.78e-3 SMART
LRR 239 261 4.21e1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000149380
SMART Domains Protein: ENSMUSP00000115661
Gene: ENSMUSG00000010311

DomainStartEndE-ValueType
low complexity region 42 70 N/A INTRINSIC
low complexity region 78 88 N/A INTRINSIC
low complexity region 134 145 N/A INTRINSIC
LRR 173 195 1.22e1 SMART
LRR 196 218 4.21e1 SMART
LRR 242 265 1.76e1 SMART
LRR 266 286 3.36e1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000153617
SMART Domains Protein: ENSMUSP00000123262
Gene: ENSMUSG00000010311

DomainStartEndE-ValueType
low complexity region 42 70 N/A INTRINSIC
low complexity region 78 88 N/A INTRINSIC
low complexity region 134 145 N/A INTRINSIC
LRR 173 195 1.22e1 SMART
LRR 196 218 4.21e1 SMART
LRR 242 265 1.76e1 SMART
LRR 266 286 3.36e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160564
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Opticin belongs to class III of the small leucine-rich repeat protein (SLRP) family. Members of this family are typically associated with the extracellular matrix. Opticin is present in significant quantities in the vitreous of the eye and also localizes to the cornea, iris, ciliary body, optic nerve, choroid, retina, and fetal liver. Opticin may noncovalently bind collagen fibrils and regulate fibril morphology, spacing, and organization. The opticin gene is mapped to a region of chromosome 1 that is associated with the inherited eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased preretinal neovascularization in an oxygen-induced retinopathy model. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 121 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik A G 17: 48,400,972 (GRCm39) K86E possibly damaging Het
Abcb11 A T 2: 69,154,227 (GRCm39) V113E possibly damaging Het
Acacb TGGGG TGGG 5: 114,347,828 (GRCm39) probably null Het
Adgrb1 T A 15: 74,401,757 (GRCm39) L251Q probably damaging Het
Akap13 G T 7: 75,261,182 (GRCm39) A1269S probably benign Het
Aox3 A G 1: 58,209,002 (GRCm39) H845R probably damaging Het
Apc C A 18: 34,445,098 (GRCm39) Q665K possibly damaging Het
Atp13a2 T A 4: 140,732,327 (GRCm39) M864K probably damaging Het
Atp6v1c2 T C 12: 17,371,612 (GRCm39) T62A probably benign Het
Atp7b T C 8: 22,501,093 (GRCm39) T937A probably damaging Het
BC034090 C T 1: 155,101,532 (GRCm39) G244D probably benign Het
C2 G A 17: 35,098,878 (GRCm39) T146M probably damaging Het
Cacna1h A G 17: 25,602,502 (GRCm39) F1403L probably damaging Het
Camk2b T C 11: 5,927,880 (GRCm39) E390G probably benign Het
Cars1 C A 7: 143,146,211 (GRCm39) R71M probably damaging Het
Castor2 G A 5: 134,164,992 (GRCm39) C187Y probably damaging Het
Ccdc141 G A 2: 76,889,951 (GRCm39) T447I probably benign Het
Cep164 T C 9: 45,714,481 (GRCm39) E182G probably damaging Het
Clstn3 T C 6: 124,426,462 (GRCm39) T575A probably benign Het
Cntnap2 T C 6: 47,275,379 (GRCm39) L1277P probably damaging Het
Cyp4a14 A T 4: 115,348,588 (GRCm39) S325R probably damaging Het
Dbt T A 3: 116,332,773 (GRCm39) D16E probably damaging Het
Ddx10 T A 9: 53,060,812 (GRCm39) R768S probably benign Het
Dis3 A T 14: 99,317,313 (GRCm39) N710K probably benign Het
Dmrta1 A T 4: 89,576,946 (GRCm39) Q134L probably damaging Het
Eif3i A T 4: 129,490,719 (GRCm39) H18Q probably benign Het
Emx2 A G 19: 59,452,465 (GRCm39) T250A probably damaging Het
Epb41l4a T C 18: 34,007,248 (GRCm39) T248A probably damaging Het
Epm2a A G 10: 11,219,426 (GRCm39) E71G probably benign Het
Eps15l1 A T 8: 73,140,712 (GRCm39) V260D probably benign Het
Etv4 A G 11: 101,666,243 (GRCm39) I95T probably damaging Het
Etv6 T C 6: 134,225,717 (GRCm39) V316A possibly damaging Het
Exoc4 T C 6: 33,735,093 (GRCm39) V570A probably benign Het
Exoc4 T C 6: 33,887,473 (GRCm39) S754P probably benign Het
Faf1 A G 4: 109,568,042 (GRCm39) N34S probably damaging Het
Fam217a T C 13: 35,097,663 (GRCm39) H208R probably damaging Het
Fgf17 T C 14: 70,875,927 (GRCm39) R102G probably damaging Het
Fhad1 G A 4: 141,655,711 (GRCm39) R798C probably damaging Het
Fkbp15 C A 4: 62,246,136 (GRCm39) G431W probably damaging Het
Gemin4 G C 11: 76,101,876 (GRCm39) P962A probably damaging Het
Gm1587 A T 14: 78,032,296 (GRCm39) C113* probably null Het
Gm28040 AGTG AGTGGCACCTTTGGTG 1: 133,255,059 (GRCm39) probably benign Het
Golim4 A T 3: 75,815,456 (GRCm39) V116D probably damaging Het
Gpr132 A G 12: 112,816,023 (GRCm39) S268P probably damaging Het
Gtpbp2 T C 17: 46,472,128 (GRCm39) M21T probably benign Het
Guca2b T C 4: 119,514,828 (GRCm39) R78G probably benign Het
Helz T A 11: 107,561,310 (GRCm39) N775K unknown Het
Ift20 G A 11: 78,430,860 (GRCm39) E68K probably damaging Het
Insrr G A 3: 87,717,879 (GRCm39) probably null Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 TCC TCCACC 1: 135,314,013 (GRCm39) probably benign Het
Irak3 A G 10: 120,001,082 (GRCm39) I281T probably benign Het
Kcnh8 T C 17: 53,200,961 (GRCm39) V465A probably damaging Het
Khsrp A T 17: 57,334,832 (GRCm39) I138N probably benign Het
Larp1b T C 3: 40,924,970 (GRCm39) M149T possibly damaging Het
Ldhc A T 7: 46,519,023 (GRCm39) D82V probably damaging Het
Lgmn T C 12: 102,361,167 (GRCm39) Y400C probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lmtk2 C T 5: 144,111,806 (GRCm39) T842I possibly damaging Het
Lpo T A 11: 87,711,956 (GRCm39) I34F probably benign Het
Magel2 A T 7: 62,027,486 (GRCm39) H130L unknown Het
Mamld1 C A X: 70,162,998 (GRCm39) Q670K probably benign Het
Mcrs1 A T 15: 99,141,256 (GRCm39) D402E probably damaging Het
Mki67 T A 7: 135,305,970 (GRCm39) probably null Het
Morc2a T A 11: 3,630,302 (GRCm39) C499* probably null Het
Mpp2 G A 11: 101,955,421 (GRCm39) R110C probably benign Het
Msra T A 14: 64,471,377 (GRCm39) T47S probably damaging Het
Nrp1 A T 8: 129,224,997 (GRCm39) E782D probably damaging Het
Ogdhl T C 14: 32,047,891 (GRCm39) V47A probably benign Het
Olfml3 T A 3: 103,643,185 (GRCm39) M399L probably benign Het
Or1j13 A G 2: 36,370,059 (GRCm39) S28P possibly damaging Het
Or2f1 C A 6: 42,721,069 (GRCm39) L33M possibly damaging Het
Or4a72 G A 2: 89,405,600 (GRCm39) Q157* probably null Het
Osbpl6 T A 2: 76,416,558 (GRCm39) I546K probably damaging Het
Pard6g T C 18: 80,160,523 (GRCm39) V212A probably damaging Het
Pcdhb14 C A 18: 37,580,923 (GRCm39) Q10K probably benign Het
Pkhd1l1 T C 15: 44,379,581 (GRCm39) I1069T possibly damaging Het
Plcb1 T A 2: 135,167,587 (GRCm39) Y460* probably null Het
Plekha6 C A 1: 133,207,103 (GRCm39) probably null Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Ptprg T A 14: 12,211,637 (GRCm38) I198N probably damaging Het
Rbm12 A T 2: 155,937,430 (GRCm39) C947* probably null Het
Rc3h2 A T 2: 37,268,928 (GRCm39) I846K probably benign Het
Ren1 C A 1: 133,286,720 (GRCm39) probably null Het
Rfwd3 A T 8: 112,024,034 (GRCm39) V96E probably benign Het
Rnf157 A G 11: 116,249,520 (GRCm39) V232A possibly damaging Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Ror1 A G 4: 100,267,222 (GRCm39) N308D probably benign Het
Rrp1 T C 10: 78,237,728 (GRCm39) probably benign Het
Rsph6a T A 7: 18,802,031 (GRCm39) V360E probably damaging Het
Senp1 T A 15: 97,973,848 (GRCm39) T132S probably benign Het
Septin4 A T 11: 87,474,262 (GRCm39) Q60L probably benign Het
Slc41a3 C T 6: 90,603,363 (GRCm39) A128V probably damaging Het
Slc7a9 T C 7: 35,152,918 (GRCm39) F112S probably damaging Het
Slc9a4 T G 1: 40,646,901 (GRCm39) probably null Het
Sort1 T A 3: 108,259,002 (GRCm39) F678Y probably benign Het
Spidr G A 16: 15,871,137 (GRCm39) L278F probably benign Het
Stard13 T C 5: 150,968,633 (GRCm39) Y879C probably damaging Het
Synpo T C 18: 60,735,967 (GRCm39) N421D probably damaging Het
Syt17 C T 7: 117,981,270 (GRCm39) G351S possibly damaging Het
Tacc1 A T 8: 25,654,509 (GRCm39) N271K probably damaging Het
Tasor A G 14: 27,198,571 (GRCm39) N1301S possibly damaging Het
Tdrd6 T C 17: 43,935,724 (GRCm39) T1775A probably benign Het
Tecpr1 T A 5: 144,145,463 (GRCm39) T595S probably benign Het
Tjp3 T A 10: 81,113,888 (GRCm39) M457L possibly damaging Het
Tmem132a C A 19: 10,841,430 (GRCm39) R298L probably benign Het
Trabd2b A T 4: 114,467,205 (GRCm39) Q478L probably benign Het
Trappc12 A T 12: 28,796,597 (GRCm39) S312T probably benign Het
Ttc9b T A 7: 27,353,774 (GRCm39) probably null Het
Ttn G A 2: 76,680,956 (GRCm39) Q1044* probably null Het
Ugt2b34 C T 5: 87,054,416 (GRCm39) D122N probably benign Het
Vps35l T C 7: 118,393,798 (GRCm39) Y516H probably damaging Het
Zc3h6 A G 2: 128,809,750 (GRCm39) H9R possibly damaging Het
Zdhhc13 T A 7: 48,474,392 (GRCm39) L548Q possibly damaging Het
Zfp236 T C 18: 82,639,429 (GRCm39) M1225V probably benign Het
Zfp280d T C 9: 72,215,287 (GRCm39) F133L probably damaging Het
Zfp521 G A 18: 13,977,762 (GRCm39) P884S possibly damaging Het
Zfp64 A G 2: 168,782,663 (GRCm39) Y146H probably damaging Het
Zfyve26 T A 12: 79,315,208 (GRCm39) I1423F possibly damaging Het
Zswim6 T A 13: 107,880,522 (GRCm39) noncoding transcript Het
Other mutations in Optc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Optc APN 1 133,829,846 (GRCm39) missense probably damaging 1.00
IGL01900:Optc APN 1 133,829,867 (GRCm39) missense possibly damaging 0.68
IGL01988:Optc APN 1 133,834,667 (GRCm39) critical splice donor site probably null
IGL02070:Optc APN 1 133,828,914 (GRCm39) missense probably damaging 1.00
IGL02859:Optc APN 1 133,829,799 (GRCm39) missense probably damaging 1.00
IGL03166:Optc APN 1 133,831,530 (GRCm39) splice site probably benign
R0826:Optc UTSW 1 133,832,893 (GRCm39) missense probably benign 0.07
R1728:Optc UTSW 1 133,832,908 (GRCm39) missense probably benign
R1728:Optc UTSW 1 133,831,534 (GRCm39) splice site probably null
R1729:Optc UTSW 1 133,832,908 (GRCm39) missense probably benign
R1729:Optc UTSW 1 133,831,534 (GRCm39) splice site probably null
R1730:Optc UTSW 1 133,832,908 (GRCm39) missense probably benign
R1730:Optc UTSW 1 133,831,534 (GRCm39) splice site probably null
R1739:Optc UTSW 1 133,832,908 (GRCm39) missense probably benign
R1739:Optc UTSW 1 133,831,534 (GRCm39) splice site probably null
R1762:Optc UTSW 1 133,832,908 (GRCm39) missense probably benign
R1762:Optc UTSW 1 133,831,534 (GRCm39) splice site probably null
R1783:Optc UTSW 1 133,832,908 (GRCm39) missense probably benign
R1783:Optc UTSW 1 133,831,534 (GRCm39) splice site probably null
R1784:Optc UTSW 1 133,832,908 (GRCm39) missense probably benign
R1784:Optc UTSW 1 133,831,534 (GRCm39) splice site probably null
R1785:Optc UTSW 1 133,831,534 (GRCm39) splice site probably null
R1785:Optc UTSW 1 133,832,908 (GRCm39) missense probably benign
R2049:Optc UTSW 1 133,831,534 (GRCm39) splice site probably null
R2130:Optc UTSW 1 133,831,534 (GRCm39) splice site probably null
R2131:Optc UTSW 1 133,831,534 (GRCm39) splice site probably null
R2141:Optc UTSW 1 133,831,534 (GRCm39) splice site probably null
R2142:Optc UTSW 1 133,831,534 (GRCm39) splice site probably null
R3436:Optc UTSW 1 133,825,617 (GRCm39) missense probably damaging 1.00
R3437:Optc UTSW 1 133,825,617 (GRCm39) missense probably damaging 1.00
R3711:Optc UTSW 1 133,832,819 (GRCm39) missense probably benign 0.15
R3902:Optc UTSW 1 133,825,701 (GRCm39) missense probably benign 0.10
R3930:Optc UTSW 1 133,828,920 (GRCm39) nonsense probably null
R4078:Optc UTSW 1 133,826,087 (GRCm39) missense probably damaging 1.00
R4523:Optc UTSW 1 133,831,492 (GRCm39) missense possibly damaging 0.94
R4672:Optc UTSW 1 133,825,555 (GRCm39) missense possibly damaging 0.48
R5113:Optc UTSW 1 133,828,715 (GRCm39) splice site probably benign
R5176:Optc UTSW 1 133,829,822 (GRCm39) missense probably benign 0.00
R5530:Optc UTSW 1 133,832,828 (GRCm39) missense probably benign 0.01
R5692:Optc UTSW 1 133,828,714 (GRCm39) splice site probably benign
R5819:Optc UTSW 1 133,825,617 (GRCm39) missense probably damaging 1.00
R6208:Optc UTSW 1 133,832,737 (GRCm39) missense probably damaging 1.00
R6828:Optc UTSW 1 133,825,605 (GRCm39) missense probably damaging 1.00
R6859:Optc UTSW 1 133,825,554 (GRCm39) missense possibly damaging 0.95
R6986:Optc UTSW 1 133,825,702 (GRCm39) missense probably benign 0.00
R7349:Optc UTSW 1 133,825,617 (GRCm39) missense probably damaging 1.00
R7754:Optc UTSW 1 133,834,730 (GRCm39) missense possibly damaging 0.73
R8270:Optc UTSW 1 133,832,810 (GRCm39) missense probably benign 0.02
R8801:Optc UTSW 1 133,832,819 (GRCm39) missense possibly damaging 0.47
R8966:Optc UTSW 1 133,828,872 (GRCm39) missense probably damaging 0.96
R9264:Optc UTSW 1 133,832,978 (GRCm39) missense probably benign 0.03
R9309:Optc UTSW 1 133,825,682 (GRCm39) missense probably benign
X0025:Optc UTSW 1 133,825,649 (GRCm39) missense probably damaging 1.00
Z1177:Optc UTSW 1 133,828,823 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- CTGTAGAACTGCCTGGTGCTAG -3'
(R):5'- GTATGGAGTCGCTCAATGCTC -3'

Sequencing Primer
(F):5'- CCATGCGTGACCTATGAATACTGTG -3'
(R):5'- AATGCTCTGCTCGATAAGGC -3'
Posted On 2014-10-01